Mosaic microdeletion 18q21 as a cause of mental retardation

被引：17

作者：

Stavropoulos, Dimitri J. ^{[2
]}

MacGregor, Daune L. ^{[3
,4
]}

Yoon, Grace ^{[1
,4
]}

机构：

[1] Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON M5G 1H4, Canada

[2] Hosp Sick Children, Dept Pediat Lab Med, Toronto, ON M5G 1H4, Canada

[3] Univ Toronto, Dept Lab Med & Pathol, Toronto, ON, Canada

[4] Hosp Sick Children, Div Neurol, Toronto, ON M5G 1H4, Canada

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2010年 / 53卷 / 06期

关键词：

Mosaic deletion 18q21; TCF4; Pitt-Hopkins syndrome; PITT-HOPKINS-SYNDROME; TRANSCRIPTION FACTOR; TCF4; HAPLOINSUFFICIENCY; MUTATIONS; GENE;

D O I：

10.1016/j.ejmg.2010.08.005

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present the clinical and cytogenetic findings in an 8 year old girl with mental retardation, acquired microcephaly, delayed motor skills and stereotypical hand movements. Array comparative genomic hybridization identified a mosaic de novo deletion of approximately 7.505 Mb in chromosome region 18q21.1q21.31, resulting in the loss of one copy of the TCF4 gene as well as 29 other RefSeq genes. The deletion likely occurred early in development as this child has clinical symptoms affecting multiple organ systems, reminiscent of those observed in Pitt-Hopkins syndrome (PHS; OMIM 610954). This case represents the second known example of a mosaic deletion resulting in clinical symptoms consistent with Pitt-Hopkins syndrome, and illustrates the utility of genomic microarray analysis in detecting large mosaic imbalances that may otherwise be missed by G-band analysis. (C) 2010 Elsevier Masson SAS. All rights reserved.

引用

页码：396 / 399

页数：4

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